Format

Send to:

Choose Destination

ECE2 endothelin converting enzyme 2 [ Homo sapiens (human) ]

Gene ID: 9718, updated on 3-Jun-2018
Official Symbol
ECE2provided by HGNC
Official Full Name
endothelin converting enzyme 2provided by HGNC
Primary source
HGNC:HGNC:13275
See related
Ensembl:ENSG00000145194 MIM:610145; Vega:OTTHUMG00000150551
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Broad expression in adrenal (RPKM 4.6), brain (RPKM 3.0) and 22 other tissues See more
Orthologs
See ECE2 in Genome Data Viewer
Location:
3q27.1
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (184276011..184293031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183967445..184010819)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene ALG3, alpha-1,3- mannosyltransferase Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene proteasome 26S subunit, non-ATPase 2 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough EEF1AKMT4-ECE2

Readthrough gene: EEF1AKMT4-ECE2, Included gene: EEF1AKMT4

Homology

Clone Names

  • MGC2408, KIAA0604, MGC17664, MGC78487

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
methylation IEA
Inferred from Electronic Annotation
more info
 
peptide hormone processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
transport vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
endothelin-converting enzyme 2
NP_001032401.1
NP_001093590.1
NP_001093591.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037324.2NP_001032401.1  endothelin-converting enzyme 2 isoform B

    See identical proteins and their annotated locations for NP_001032401.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (B) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AY359003, BC142950
    Consensus CDS
    CCDS33899.1
    Related
    ENSP00000352052.4, OTTHUMP00000197818, ENST00000359140.8, OTTHUMT00000318877
    Conserved Domains (2) summary
    cd08662
    Location:85734
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:74727
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001100120.1NP_001093590.1  endothelin-converting enzyme 2 isoform D

    See identical proteins and their annotated locations for NP_001093590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (D) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AF521189, AY359003, BC142950
    Consensus CDS
    CCDS43179.1
    Related
    ENSP00000350066.5, OTTHUMP00000210688, ENST00000357474.9, OTTHUMT00000345998
    Conserved Domains (1) summary
    cd08662
    Location:160809
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
  3. NM_001100121.1NP_001093591.1  endothelin-converting enzyme 2 isoform E

    See identical proteins and their annotated locations for NP_001093591.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (E) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF192531, AF428263, AY359003, BC142950
    Consensus CDS
    CCDS46969.1
    Related
    ENSP00000385846.3, OTTHUMP00000197817, ENST00000404464.7, OTTHUMT00000318876
    Conserved Domains (2) summary
    cd08662
    Location:114763
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:103756
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    184276011..184293031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center